A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747984



Internal ID10328954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:109383258..109383638hg38UCSC Ensembl
Outerchr13:110035605..110035985hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6688455, essv6891459, essv6712410
SamplesSSM097, SSM035, SSM006
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2747984
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer